Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation

J Neuroimmunol. 2002 Jul;128(1-2):77-81. doi: 10.1016/s0165-5728(02)00140-6.

Abstract

We investigated PvuII and XbaI polymorphism in the estrogen receptor gene (ERG) and HLA-DRB1*1501 positivity in 116 conventional multiple sclerosis (MS) patients and 101 healthy controls in a Japanese population. Logistic analysis revealed independent associations of [P] allele in the profiles for PvuII (p=0.0005, adjusted odds ratio (aOR)=3.17) and DRB1*1501 (p=0.0089, aOR=2.61) with conventional MS. Synergistic elevated risk of MS due to interaction between the [P] allele and HLA-DRB1*1501 allele was found among female patients (odds ratio=16.0; 95% CI=3.99-63.8, p<0.0001). The [P] allele-positive patients with disease duration of more than 5 years had a significantly higher progression index (PI) of disability (p=0.0230) and a worse ranked MS severity score (p=0.0152) than their non-[P] counterparts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • DNA Mutational Analysis
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • HLA-DR Antigens / genetics*
  • HLA-DR Antigens / immunology
  • HLA-DRB1 Chains
  • Humans
  • Japan
  • Logistic Models
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / immunology
  • Multiple Sclerosis / physiopathology
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Genetic / immunology
  • Prognosis
  • Receptors, Estrogen / genetics*
  • Receptors, Estrogen / immunology
  • Sex Factors

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains
  • Receptors, Estrogen
  • endodeoxyribonuclease XBAI
  • CAGCTG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific